Skin is a Key to Identifying Bachmann-Bupp Syndrome: A Treatable Ultra-Rare Disorder

Document Type

Conference Proceeding

Publication Date

3-2026

Publication Title

Journal of Investigative Dermatology

Abstract

Bachmann-Bupp Syndrome (BABS) is a rare disorder due to mutations in the ODC1 gene, causing premature truncation in the ODC protein. This produces cellular accumulation of active ODC protein and putrescine. Individuals with BABS have a history of global delays, hypotonia, macrocephaly, and non-congenital alopecia. Nineteen individuals are known to have BABS with neurodevelopmental history often prompting evaluation. However, most patients presented with unusual dermatologic features. Absent/sparse scalp hair, eyebrows and eyelashes were most reported. A subset of cases also had recurrent follicular cysts. Four patients have been treated with difluoromethylornithine (DFMO) under FDA-approved single-patient INDs. DFMO is an irreversible ODC inhibitor that is approved for the treatment of African trypanosomiasis, hirsutism, and neuroblastoma. Patient age at treatment initiation ranged from 3m to 6y, with the first patient having been treated for over 5y. Treatment has been well-tolerated with no drug-related adverse events. All have shown neurological improvement. Dermatologically, they have demonstrated robust regrowth of hair and cessation of follicular cysts since the start of therapy. In summary, BABS is an ultra-rare neurodevelopmental disorder with marked dermatologic features. Early recognition of these features provides clinicians, especially dermatologists, an opportunity to aid in diagnosis of BABS and increase access to life-altering pharmacological intervention.

Volume

146

Issue

3 Suppl

First Page

s13

Last Page

s13

Comments

13th PeDRA (Pediatric Dermatology Research Alliance) Annual Conference, Oct 9-11, 2025 Minneapolis, MN

DOI

10.1016/S0022-202X(26)00586-5

ISSN

0022-202X

Link to Full Text

Share

COinS